NM_000260.4(MYO7A):c.285+2T>G AND multiple conditions

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Sep 26, 2017
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV000669696.2

Allele description [Variation Report for NM_000260.4(MYO7A):c.285+2T>G]

NM_000260.4(MYO7A):c.285+2T>G

Gene:

MYO7A:myosin VIIA [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11q13.5

Genomic location:

Preferred name:

NM_000260.4(MYO7A):c.285+2T>G

HGVS:

NC_000011.10:g.77147952T>G
NG_009086.2:g.24707T>G
NM_000260.4:c.285+2T>GMANE SELECT
NM_001127180.2:c.285+2T>G
NM_001369365.1:c.252+2T>G
LRG_1420t1:c.285+2T>G
LRG_1420:g.24707T>G
NC_000011.9:g.76858998T>G
NM_000260.3:c.285+2T>G

Links:

dbSNP: rs782292032

NCBI 1000 Genomes Browser:

rs782292032

Molecular consequence:

NM_000260.4:c.285+2T>G - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001127180.2:c.285+2T>G - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001369365.1:c.252+2T>G - splice donor variant - [Sequence Ontology: SO:0001575]

Condition(s)

Name:: Autosomal recessive nonsyndromic hearing loss 2
Synonyms:: DEAFNESS, AUTOSOMAL RECESSIVE 2; NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 2
Identifiers:: MONDO: MONDO:0010807; MedGen: C1838701; Orphanet: 90636; OMIM: 600060

Name:: Usher syndrome type 1 (USH1)
Synonyms:: RETINITIS PIGMENTOSA AND CONGENITAL DEAFNESS; Usher syndrome, type I, French variety
Identifiers:: MONDO: MONDO:0010168; MedGen: C1568247; Orphanet: 231169; Orphanet: 886; OMIM: 276900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000794473	Counsyl	criteria provided, single submitter (Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))	Likely pathogenic (Sep 26, 2017)	unknown	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000794473

Counsyl

criteria provided, single submitter

(Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))

Likely pathogenic
(Sep 26, 2017)

unknown

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Counsyl, SCV000794473.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	unknown	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Feb 25, 2025

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